Linked Data
dbSNP Id:
rs528247453
ExAC:
11:116661366 T / C
gnomAD v2:
11-116661366-T-C
gnomAD v3:
11-116790650-T-C
gnomAD v4:
11-116790650-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116790650T>C , CM000673.2:g.116790650T>C | GRCh38 |
| NC_000011.9:g.116661366T>C , CM000673.1:g.116661366T>C | GRCh37 |
| NC_000011.8:g.116166576T>C | NCBI36 |
| NG_015894.1:g.6771A>G | |
| NG_015894.2:g.6771A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227665.9:c.579A>G MANE Select | ENSP00000227665.4:p.Pro193= | |
| ENST00000433069.2:c.579A>G | ENSP00000399701.2:p.Pro193= | |
| ENST00000673688.1:c.663A>G | ENSP00000501141.1:p.Pro221= | |
| ENST00000227665.8:c.579A>G | ENSP00000227665.4:p.Pro193= | |
| ENST00000542499.5:c.579A>G | ENSP00000445002.1:p.Pro193= | |
| NM_001166598.1:c.579A>G | NP_001160070.1:p.Pro193= | |
| NM_052968.4:c.579A>G | NP_443200.2:p.Pro193= | |
| NM_001166598.2:c.579A>G | NP_001160070.1:p.Pro193= | |
| NM_001371904.1:c.579A>G MANE Select | NP_001358833.1:p.Pro193= | |
| NM_052968.5:c.579A>G | NP_443200.2:p.Pro193= |